Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA6
Variant:p.K524R

PLEKHA6

116 papers

Pfam Domains

PHaa 60–158UCSCPH domain
TBCA_PHaa 524–662UCSCPH domain-containing proteins, TBCA domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing A6

HGNC Alias Symbols

PEPP3; KIAA0969

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014935.5
p.K524R
c.1571A>G
Surrounding Variants
1 paper
NM_014935.5
p.K524T
c.1571A>C
1 paper
NM_014935.5
p.D531_K532Splc
c.1593+14C>T
1 paper
NM_014935.5
p.P511S
c.1531C>T
1 paper
NM_014935.5
p.V509I
c.1525G>A
1 paper
NM_014935.5
p.A556P
c.1666G>C
1 paper
NM_014935.5
p.M566T
c.1697T>C
1 paper
NM_014935.5
p.I599F
c.1795A>T
1 paper
NM_014935.5
p.I599S
c.1796T>G
1 paper
NM_014935.5
p.R600H
c.1799G>A
1 paper
NM_014935.5
p.R600R
c.1800C>T
1 paper
NM_014935.5
p.E621A
c.1862A>C
1 paper
NM_014935.5
p.S625C
c.1874C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."